Incidental Mutation 'R7807:Neo1'
ID |
600872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neo1
|
Ensembl Gene |
ENSMUSG00000032340 |
Gene Name |
neogenin |
Synonyms |
2610028H22Rik, D930014N22Rik, Igdcc2 |
MMRRC Submission |
045862-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7807 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58781970-58943724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58897777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 60
(T60A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068664]
[ENSMUST00000214547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068664
AA Change: T60A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000063656 Gene: ENSMUSG00000032340 AA Change: T60A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
IGc2
|
76 |
147 |
9.49e-5 |
SMART |
IGc2
|
175 |
239 |
4.43e-5 |
SMART |
IGc2
|
272 |
338 |
6.15e-13 |
SMART |
IGc2
|
364 |
428 |
7.76e-10 |
SMART |
low complexity region
|
446 |
458 |
N/A |
INTRINSIC |
FN3
|
470 |
553 |
8.23e-12 |
SMART |
FN3
|
570 |
649 |
1.78e-16 |
SMART |
FN3
|
665 |
749 |
1.54e-11 |
SMART |
FN3
|
770 |
849 |
5.27e-10 |
SMART |
FN3
|
885 |
970 |
7.63e-7 |
SMART |
FN3
|
986 |
1072 |
2.78e-9 |
SMART |
transmembrane domain
|
1136 |
1158 |
N/A |
INTRINSIC |
Pfam:Neogenin_C
|
1189 |
1492 |
1.9e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214547
AA Change: T60A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
C |
A |
9: 21,447,276 (GRCm39) |
T146K |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,599,958 (GRCm39) |
S1595T |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,831,635 (GRCm39) |
I56N |
probably damaging |
Het |
Anln |
C |
A |
9: 22,272,176 (GRCm39) |
V648F |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,807,981 (GRCm39) |
D1053G |
probably benign |
Het |
Baalc |
T |
C |
15: 38,797,412 (GRCm39) |
S68P |
probably benign |
Het |
Begain |
T |
C |
12: 109,004,856 (GRCm39) |
D52G |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,837,040 (GRCm39) |
I41V |
probably benign |
Het |
Bpifc |
T |
A |
10: 85,812,114 (GRCm39) |
I365F |
possibly damaging |
Het |
C2 |
G |
T |
17: 35,095,347 (GRCm39) |
S199R |
possibly damaging |
Het |
Ccbe1 |
T |
A |
18: 66,199,828 (GRCm39) |
H298L |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,423,826 (GRCm39) |
K304I |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,226,678 (GRCm39) |
E432G |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,010,594 (GRCm39) |
M1K |
probably null |
Het |
Cipc |
T |
C |
12: 87,008,899 (GRCm39) |
S253P |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,287,282 (GRCm39) |
|
probably null |
Het |
Clock |
A |
T |
5: 76,390,982 (GRCm39) |
N273K |
probably benign |
Het |
Cyp19a1 |
T |
C |
9: 54,074,126 (GRCm39) |
D476G |
probably benign |
Het |
Dnaaf9 |
T |
C |
2: 130,552,785 (GRCm39) |
K1092E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,253,527 (GRCm39) |
I1811V |
probably benign |
Het |
Fat1 |
C |
A |
8: 45,495,010 (GRCm39) |
T4091K |
probably damaging |
Het |
Gm10340 |
T |
A |
14: 14,826,724 (GRCm39) |
N64K |
probably damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,171 (GRCm39) |
R2523C |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,782,009 (GRCm39) |
H244R |
probably damaging |
Het |
Hgs |
G |
T |
11: 120,370,760 (GRCm39) |
A567S |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,041,077 (GRCm39) |
V1036A |
probably benign |
Het |
Keg1 |
G |
A |
19: 12,691,998 (GRCm39) |
|
probably null |
Het |
Klhl8 |
A |
T |
5: 104,023,932 (GRCm39) |
L156Q |
probably damaging |
Het |
Lmln |
T |
C |
16: 32,927,501 (GRCm39) |
Y521H |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,124 (GRCm39) |
S1206P |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,074,541 (GRCm39) |
I550F |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,971,753 (GRCm39) |
W28* |
probably null |
Het |
Mfsd11 |
T |
G |
11: 116,754,733 (GRCm39) |
S215A |
probably benign |
Het |
Mpped2 |
C |
A |
2: 106,575,085 (GRCm39) |
H57N |
possibly damaging |
Het |
Mslnl |
A |
G |
17: 25,965,751 (GRCm39) |
M542V |
probably benign |
Het |
Myh6 |
G |
T |
14: 55,179,897 (GRCm39) |
H1903Q |
probably damaging |
Het |
Npm2 |
T |
A |
14: 70,889,947 (GRCm39) |
|
probably null |
Het |
Or5b123 |
C |
A |
19: 13,597,285 (GRCm39) |
T210K |
probably damaging |
Het |
Or5d20-ps1 |
T |
C |
2: 87,931,909 (GRCm39) |
S141G |
probably benign |
Het |
Or7a39 |
T |
A |
10: 78,715,043 (GRCm39) |
S12R |
probably benign |
Het |
Pax9 |
A |
T |
12: 56,743,850 (GRCm39) |
I166F |
possibly damaging |
Het |
Pcsk9 |
A |
G |
4: 106,321,092 (GRCm39) |
S6P |
possibly damaging |
Het |
Pikfyve |
A |
G |
1: 65,309,101 (GRCm39) |
Y1893C |
probably damaging |
Het |
Pirb |
T |
C |
7: 3,722,864 (GRCm39) |
T43A |
possibly damaging |
Het |
Pou3f1 |
A |
G |
4: 124,552,074 (GRCm39) |
D192G |
possibly damaging |
Het |
Pus3 |
C |
G |
9: 35,478,021 (GRCm39) |
R418G |
probably damaging |
Het |
Rexo1 |
C |
T |
10: 80,385,970 (GRCm39) |
V363I |
probably benign |
Het |
Sdcbp |
A |
G |
4: 6,393,688 (GRCm39) |
T269A |
probably damaging |
Het |
Sele |
T |
C |
1: 163,881,462 (GRCm39) |
V523A |
probably benign |
Het |
Serpinb8 |
T |
A |
1: 107,532,457 (GRCm39) |
M183K |
probably damaging |
Het |
Sh2d4a |
T |
G |
8: 68,735,033 (GRCm39) |
S51A |
probably benign |
Het |
Siglec15 |
A |
G |
18: 78,090,696 (GRCm39) |
S201P |
probably damaging |
Het |
Slc10a5 |
C |
T |
3: 10,400,529 (GRCm39) |
V44I |
probably benign |
Het |
Slc16a13 |
A |
G |
11: 70,111,388 (GRCm39) |
V39A |
probably damaging |
Het |
Slc25a13 |
G |
A |
6: 6,117,164 (GRCm39) |
R184W |
probably damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,278 (GRCm39) |
D359E |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,371,371 (GRCm39) |
E641G |
probably benign |
Het |
Slf1 |
T |
C |
13: 77,194,823 (GRCm39) |
D834G |
probably damaging |
Het |
Spata31f1e |
A |
C |
4: 42,793,885 (GRCm39) |
H82Q |
probably benign |
Het |
Stim1 |
T |
C |
7: 102,076,348 (GRCm39) |
I433T |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,057,444 (GRCm39) |
I418K |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,758,480 (GRCm39) |
N747S |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,192,302 (GRCm39) |
T711A |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,807,220 (GRCm39) |
I988T |
probably benign |
Het |
Ttc41 |
T |
A |
10: 86,612,495 (GRCm39) |
I1256N |
probably benign |
Het |
Uba2 |
T |
C |
7: 33,862,638 (GRCm39) |
D100G |
possibly damaging |
Het |
Vmn1r43 |
A |
G |
6: 89,847,219 (GRCm39) |
I89T |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,521,910 (GRCm39) |
Y62F |
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,060,855 (GRCm39) |
Q428* |
probably null |
Het |
Zcrb1 |
T |
C |
15: 93,289,002 (GRCm39) |
D88G |
probably damaging |
Het |
Zmym1 |
A |
C |
4: 126,941,667 (GRCm39) |
I907S |
probably damaging |
Het |
|
Other mutations in Neo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Neo1
|
APN |
9 |
58,829,202 (GRCm39) |
splice site |
probably benign |
|
IGL00885:Neo1
|
APN |
9 |
58,795,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01103:Neo1
|
APN |
9 |
58,788,082 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01322:Neo1
|
APN |
9 |
58,814,368 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02216:Neo1
|
APN |
9 |
58,824,336 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02327:Neo1
|
APN |
9 |
58,810,371 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02392:Neo1
|
APN |
9 |
58,833,094 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02458:Neo1
|
APN |
9 |
58,801,150 (GRCm39) |
splice site |
probably benign |
|
IGL03057:Neo1
|
APN |
9 |
58,785,342 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03091:Neo1
|
APN |
9 |
58,885,951 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03193:Neo1
|
APN |
9 |
58,815,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Neo1
|
UTSW |
9 |
58,882,021 (GRCm38) |
intron |
probably benign |
|
R0419:Neo1
|
UTSW |
9 |
58,897,463 (GRCm39) |
splice site |
probably benign |
|
R0571:Neo1
|
UTSW |
9 |
58,893,069 (GRCm39) |
missense |
probably benign |
|
R0646:Neo1
|
UTSW |
9 |
58,838,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R0736:Neo1
|
UTSW |
9 |
58,824,364 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0739:Neo1
|
UTSW |
9 |
58,829,160 (GRCm39) |
missense |
probably benign |
0.22 |
R1636:Neo1
|
UTSW |
9 |
58,820,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R1694:Neo1
|
UTSW |
9 |
58,787,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1827:Neo1
|
UTSW |
9 |
58,824,314 (GRCm39) |
nonsense |
probably null |
|
R1927:Neo1
|
UTSW |
9 |
58,897,668 (GRCm39) |
missense |
probably benign |
0.12 |
R2354:Neo1
|
UTSW |
9 |
58,892,917 (GRCm39) |
missense |
probably benign |
|
R2365:Neo1
|
UTSW |
9 |
58,863,286 (GRCm39) |
missense |
probably benign |
|
R3156:Neo1
|
UTSW |
9 |
58,796,262 (GRCm39) |
splice site |
probably null |
|
R3552:Neo1
|
UTSW |
9 |
58,801,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R3829:Neo1
|
UTSW |
9 |
58,820,452 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4477:Neo1
|
UTSW |
9 |
58,784,582 (GRCm39) |
missense |
probably damaging |
0.99 |
R4613:Neo1
|
UTSW |
9 |
58,796,324 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5023:Neo1
|
UTSW |
9 |
58,897,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5046:Neo1
|
UTSW |
9 |
58,801,194 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5057:Neo1
|
UTSW |
9 |
58,897,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R5323:Neo1
|
UTSW |
9 |
58,813,931 (GRCm39) |
critical splice donor site |
probably null |
|
R5394:Neo1
|
UTSW |
9 |
58,897,517 (GRCm39) |
missense |
probably benign |
0.10 |
R5470:Neo1
|
UTSW |
9 |
58,838,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R5473:Neo1
|
UTSW |
9 |
58,788,126 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5500:Neo1
|
UTSW |
9 |
58,824,337 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5503:Neo1
|
UTSW |
9 |
58,892,933 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6122:Neo1
|
UTSW |
9 |
58,824,291 (GRCm39) |
missense |
probably benign |
|
R6191:Neo1
|
UTSW |
9 |
58,796,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R6431:Neo1
|
UTSW |
9 |
58,814,354 (GRCm39) |
missense |
probably benign |
0.27 |
R6560:Neo1
|
UTSW |
9 |
58,787,884 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6658:Neo1
|
UTSW |
9 |
58,829,132 (GRCm39) |
missense |
probably benign |
0.14 |
R6772:Neo1
|
UTSW |
9 |
58,810,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R6912:Neo1
|
UTSW |
9 |
58,824,335 (GRCm39) |
missense |
probably benign |
0.00 |
R7061:Neo1
|
UTSW |
9 |
58,897,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7145:Neo1
|
UTSW |
9 |
58,796,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R7156:Neo1
|
UTSW |
9 |
58,810,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Neo1
|
UTSW |
9 |
58,791,826 (GRCm39) |
missense |
probably benign |
0.04 |
R7519:Neo1
|
UTSW |
9 |
58,785,348 (GRCm39) |
missense |
probably benign |
0.13 |
R7615:Neo1
|
UTSW |
9 |
58,791,786 (GRCm39) |
missense |
probably benign |
0.07 |
R7665:Neo1
|
UTSW |
9 |
58,833,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7695:Neo1
|
UTSW |
9 |
58,810,212 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7753:Neo1
|
UTSW |
9 |
58,863,288 (GRCm39) |
missense |
probably benign |
0.00 |
R7915:Neo1
|
UTSW |
9 |
58,838,264 (GRCm39) |
missense |
probably benign |
0.42 |
R7973:Neo1
|
UTSW |
9 |
58,897,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Neo1
|
UTSW |
9 |
58,785,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R8505:Neo1
|
UTSW |
9 |
58,820,566 (GRCm39) |
missense |
probably benign |
0.02 |
R8700:Neo1
|
UTSW |
9 |
58,825,913 (GRCm39) |
missense |
probably benign |
0.28 |
R8798:Neo1
|
UTSW |
9 |
58,820,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R8952:Neo1
|
UTSW |
9 |
58,897,545 (GRCm39) |
missense |
probably benign |
0.01 |
R9779:Neo1
|
UTSW |
9 |
58,886,009 (GRCm39) |
nonsense |
probably null |
|
R9784:Neo1
|
UTSW |
9 |
58,889,503 (GRCm39) |
missense |
probably benign |
|
R9789:Neo1
|
UTSW |
9 |
58,801,307 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0063:Neo1
|
UTSW |
9 |
58,897,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGATGAATAAAGATCCATCTGGG -3'
(R):5'- TGGTTGCCTGTAAGTCAAGAGG -3'
Sequencing Primer
(F):5'- GAGTAGCTGGCGTCGATCATC -3'
(R):5'- TGCCTGTAAGTCAAGAGGATGAATAC -3'
|
Posted On |
2019-11-26 |